Canonical Allele Identifier: CA357627061
Gene: PKD2 HGNC NCBI

Linked Data

gnomAD v4: 4-88008272-T-C
MyVariant Identifiers: chr4:g.88929424T>C (hg19) chr4:g.88008272T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008272T>C , CM000666.2:g.88008272T>C GRCh38
NC_000004.11:g.88929424T>C , CM000666.1:g.88929424T>C GRCh37
NC_000004.10:g.89148448T>C NCBI36
NG_008604.1:g.5605T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.539T>C MANE Select ENSP00000237596.2:p.Leu180Pro
ENST00000237596.6:c.539T>C ENSP00000237596.2:p.Leu180Pro
ENST00000506727.1:n.41T>C
NM_000297.3:c.539T>C NP_000288.1:p.Leu180Pro
XM_011532028.1:c.539T>C XP_011530330.1:p.Leu180Pro
XR_244632.2:n.634T>C
NR_156488.1:n.626T>C
XM_011532028.2:c.539T>C XP_011530330.1:p.Leu180Pro
NM_000297.4:c.539T>C MANE Select NP_000288.1:p.Leu180Pro
NR_156488.2:n.638T>C
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